Variant report

Variant	rs758160
Chromosome Location	chr12:1983782-1983783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11829061	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs11838338	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[EUR][1000 genomes]
rs12300820	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765854	1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs4765855	0.80[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765856	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58041839	0.85[EUR][1000 genomes]
rs60708075	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60945277	0.85[EUR][1000 genomes]
rs61085710	0.85[EUR][1000 genomes]
rs61386831	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61457024	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297190	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[EUR][1000 genomes]
rs73032415	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73032423	0.88[EUR][1000 genomes]
rs73032427	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032431	0.88[EUR][1000 genomes]
rs73032438	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73032440	0.96[EUR][1000 genomes]
rs73032452	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73036228	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036240	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038172	0.90[EUR][1000 genomes]
rs73038195	0.86[EUR][1000 genomes]
rs7308134	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[EUR][1000 genomes]
rs737102	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[EUR][1000 genomes]
rs7957635	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs7964656	0.86[EUR][1000 genomes]
rs7966806	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969511	0.92[EUR][1000 genomes]
rs9669070	0.86[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv832306	chr12:1847726-2001308	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv934103	chr12:1935388-1984604	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv898599	chr12:1942752-1989355	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1038109	chr12:1944485-1985227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv1040260	chr12:1947193-1983782	Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv933450	chr12:1949712-1984604	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1036795	chr12:1950039-1983782	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1051770	chr12:1950039-1985227	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1038395	chr12:1950039-1987245	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv2761720	chr12:1950051-1985239	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1045447	chr12:1959333-1993612	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1046388	chr12:1964846-2034887	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1980000-1983800	Enhancers	Fetal Brain Female	brain
2	chr12:1980600-1988600	Weak transcription	Right Atrium	heart
3	chr12:1980800-1983800	Enhancers	Fetal Brain Male	brain
4	chr12:1981000-1986800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:1981000-1992000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:1983200-1985000	Weak transcription	Brain Germinal Matrix	brain

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